Slc6a18 solute carrier family 6 (neurotransmitter transporter), member 18 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc6a18provided by MGI
Official Full Name: solute carrier family 6 (neurotransmitter transporter), member 18provided by MGI
Primary source: MGI:MGI:1336892
See related: Ensembl:ENSMUSG00000021612 AllianceGenome:MGI:1336892
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Xt2; B0AT3; Xtrp2; D630001K16Rik
Summary: Enables neutral amino acid transmembrane transporter activity. Acts upstream of or within amino acid transmembrane transport. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including metanephros. Orthologous to human SLC6A18 (solute carrier family 6 member 18). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward kidney adult (RPKM 132.5) See more
Orthologs: human all
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Genomic context

Location:: 13 C1; 13 40.13 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (73809869..73826142, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (73661750..73678023, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

analysis of the interaction of amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin
Title: Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin.
In contrast to its association with ACE2 observed in Xenopus oocytes, experiments with ace2 and collectrin null mice demonstrate that in vivo it is Collectrin, a smaller homologue of ACE2, that is required for functional expression of XT2 in kidney.
Title: Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3.
The XT2 orphan transporter is involved in glycine reabsorption, and the absence of this transporter is sufficient to cause hypertension.
Title: Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables neutral L-amino acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables neutral L-amino acid:sodium:chloride symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within amino acid transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in neutral amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in renal amino acid absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sodium-dependent neutral amino acid transporter B(0)AT3

Names: X transporter protein 2; b(0)AT3; sodium and chloride dependent transporter Xtrp2; sodium- and chloride-dependent transporter XTRP2; solute carrier family 6 member 18; system B 0 neutral amino acid transporter AT3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001040692.3 → NP_001035782.1 sodium-dependent neutral amino acid transporter B(0)AT3 isoform 1

See identical proteins and their annotated locations for NP_001035782.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC158359

Consensus CDS

CCDS36727.1

UniProtKB/Swiss-Prot

O88576, O88577, O88578, O88579, O88580, O88581, Q91XG6

Related

ENSMUSP00000152525.2, ENSMUST00000222029.2

Conserved Domains (1) summary

cd11517
Location:16 → 591

SLC6sbd_B0AT3; glycine transporter, B0AT3; solute-binding domain
NM_001136087.2 → NP_001129559.1 sodium-dependent neutral amino acid transporter B(0)AT3 isoform 2

See identical proteins and their annotated locations for NP_001129559.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC158359, AK085473

Consensus CDS

CCDS49311.1

UniProtKB/Swiss-Prot

O88576

Related

ENSMUSP00000105302.3, ENSMUST00000109680.10

Conserved Domains (1) summary

cl00456
Location:16 → 553

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_001168643.1 → NP_001162114.1 sodium-dependent neutral amino acid transporter B(0)AT3 isoform 3

See identical proteins and their annotated locations for NP_001162114.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC158359, AK085258

Consensus CDS

CCDS88480.1

UniProtKB/TrEMBL

A0A217FL56

Related

ENSMUSP00000022105.9, ENSMUST00000022105.15

Conserved Domains (1) summary

cl00456
Location:16 → 488

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_001168644.1 → NP_001162115.1 sodium-dependent neutral amino acid transporter B(0)AT3 isoform 4

See identical proteins and their annotated locations for NP_001162115.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC158359

Consensus CDS

CCDS49312.1

UniProtKB/Swiss-Prot

O88576

Related

ENSMUSP00000105301.3, ENSMUST00000109679.4

Conserved Domains (1) summary

cl00456
Location:16 → 498

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_001168645.1 → NP_001162116.1 sodium-dependent neutral amino acid transporter B(0)AT3 isoform 5

See identical proteins and their annotated locations for NP_001162116.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC158359

Consensus CDS

CCDS88479.1

UniProtKB/Swiss-Prot

O88576

Related

ENSMUSP00000152403.2, ENSMUST00000220650.2

Conserved Domains (1) summary

cl00456
Location:16 → 460

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_001168646.1 → NP_001162117.1 sodium-dependent neutral amino acid transporter B(0)AT3 isoform 6

See identical proteins and their annotated locations for NP_001162117.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 6), compared to isoform 1.

Source sequence(s)

AC158359

Consensus CDS

CCDS88481.1

UniProtKB/Swiss-Prot

O88576

Related

ENSMUSP00000152146.2, ENSMUST00000223074.2

Conserved Domains (1) summary

cd11517
Location:16 → 581

SLC6sbd_B0AT3; glycine transporter, B0AT3; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

73809869..73826142 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_011730.1: Suppressed sequence

Description

NM_011730.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.